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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Ile482_Gly489delinsMetTrpTrpIleLeu;Tyr492_Gly497delinsAlaSerCysThrGlyLeu;Pro499_Asn508delinsGlyGluLeuProProArgSerArgLys;Val510_Ile512delinsAla]
CA645373234
ENST00000560467.2:c.1446del